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data provide evidence for a similar cross-species response to high dose folic acid supplementation, of sperm DNA hypomethylation, and implicate MTHFR downregulation as a possible mechanism.
findings indicate that the loss of folate as a methyl donor is a modifier of allergic airway disease, and that epigenetic and expression changes correlate with this modification.
Ganglion cell loss and vasculopathy observed in Mthfr+/- and Cbs+/- mouse retinas may be milder than expected, not because of compensatory increases of enzymes in remethylation/transsulfuration pathways, but because downstream transsulfuration pathway products GSH, taurine, and H2S are maintained at robust levels.
In summary, high folate intake during pregnancy leads to pseudo-MTHFR deficiency, disturbed choline/methyl metabolism, embryonic growth delay and memory impairment in offspring. These findings highlight the unintended negative consequences of supplemental folic acid.
Study demonstrated that maternal MTHFR deficiency (i.e., in utero MTHFR deficiency) and early life exposure to vigabatrin separately and together alter the levels of proteins in the glutamatergic synapse
Mildly hyperhomocysteinemic Mthfr+/- mice demonstrate reduced ganglion cell function, thinner NFL, and mild vasculopathy by 24 weeks.
DNA methylation patterns in undifferentiated spermatogonia are relatively stable in culture over time under conditions of altered methionine and MTHFR levels.
Data from Mthfr knockout mice (in homozygous/heterozygous matings) suggest that maternal genotype contributes to sensitivity to arsenic as embryotoxin (i.e., genetic predisposition to fetal resorption/congenital malformation in arsenic poisoning).
our results support an interaction between mild neonatal stress, the MTHFR genotype and sex
expressed in placenta at highest level during early development
investigation of Mthfr regulation in an in vivo mouse model revealed temporal- and tissue-specific regulation that supports important roles for MTHFR in the developing embryo, and in postnatal brain and male reproductive tissues
A possible mechanism for the epigenetic involvement of Mthfr deficiency is proposed in the gender-dependent regulation of proteins associated with plasticity of the excitatory synapse.
These results showed that methylenetetrahydrofolate reductase deficiency impairs endothelial progenitor cell formation and increases endothelial progenitor cell senescence by endothelial nitric oxide synthase uncoupling and downregulation of SIRT1.
Variable presentation of MTHFR deficiency in different genetic backgrounds; plasma homocysteine is not a predictor of severity.
Newborn reflex development was slightly influenced by Mthfr +/- genotype and by the combination genotype and the neonatal vigabatrin (GVG) administration, in a sex-independent manner. Females presented attenuated anxiety due to Mthfr +/- genotype and GVG.
multiple transcription start sites and alternative splicing
reduces 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, the major carbon donor in the remethylation of homocysteine to methionine
Mthfr(+/-) genotype sensitizes mice to diet-induced hyperhomocysteinemia and hyperhomocysteinemia alters tissue methylation capacity and impairs endothelial function in cerebral microvessels.
These results suggest a possibility that the truncated pseudogene may buffer variations of the mouse Mthfr functional gene, and the mouse has evolved fewer variations of the gene than human
important role for choline and betaine depletion in the pathogenesis of homocystinuria due to MTHFR deficiency
No significant association was detected between MTHFR C677T polymorphism and DNA damage in tobacco farmers.
The allelic frequencies of MTHFR 677 and MTHFR 1298 in group 1 were 0.268 and 0.429, respectively (higher than those in healthy population)....The coincidence of Vanished twin and MTHFR polymorphisms might play an incidental or factual role in this connection.
Both MTHFR C677T (rs 1801133) and A1298C (rs 1801131) gene polymorphisms were risks for congenital heart disease in children with transgenerational effects from their parents.
Increased air pollution was associated with increased MTHFR 677 TT and CT polymorphisms in both the case and control group (p < 0.05), with the trend of increased ischemic heart disease risk resulting from increased air pollution. These results associate the potential inflammatory pathway with air pollution and the folate pathway with MTHFR polymorphism
MTHFR C677T polymorphism has been regarded as a risk factor for various vascular diseases. prevalence of MTHFR C677T polymorphism in a large ethnic Hakka population living in southern China
A statistically significant association between methylenetetrahydrofolate reductase (MTHFR) 677T/T, thymidylate synthase (TS) 5'-untranslated region (UTR) 3RG, TS 3'-UTR -6 bp/-6 bp, XRCC1 399G/G genotypes and short survival was found in patients receiving best supportive care (BSC)by multivariate analysis
MTHFR C677T genotype determines whether folic acid therapy can increase serum folate levels and reduce serum homocysteine levels.
No significant association was found with the MTHFR A1298C polymorphism. For children with malignancy, genotyping of the MTHFR C677T polymorphism is expected to be a useful tool in reducing toxicity and improving outcome in personalized methotrexate (MTX)therapy.
The results suggest that the presence of the MTHFR C677T mutation does not constitute a risk factor for infertility, even when the mutation is homozygous
The results of present meta-analysis suggested that 677T allele of MTHFR is significantly increases the epilepsy susceptibility.
Our results provide evidence that variants of MTHFR C677T gene may influence the risk of developing ischemic stroke in a southern Chinese Hakka population.
Male infertility association of C665T and A1298C polymorphisms was explored. Comparison of patients (6180) and controls (5744) of Caucasian populations was performed by meta-analysis. A1298C seems more relevant marker than C665T for infertility association in Caucasian populations and may be addressed by improving dietary folate.
The subjects with 677CC/1298AA genotype were only 3.05%. We were not found triple 677CT/1298CC and quadruple 677TT/1298CC mutation suggesting decreased viability of embryos with increased numbers of mutant alleles.
The polymorphism of MTHFR C677T/A1298C may not be an important indicator for the accurate detection of side effects of chemotherapy after using methotrexate.
We found a significant inverse correlation between MTHFR methylation levels and perceived stress scores, which remained significant after being adjusted for age, sex, and depressive symptomatology. This is the first study that reports an association between perceived stress and MTHFR methylation levels.
No significant difference in FVL genotype between patients and controls was observed, whereas high frequencies of PRT G20210A, MTHFR C677T and MTHFR A1298C mutations in the Hb S patients
MTHFR C677T genotyping may be useful for predicting methotrexate toxicity
High frequency of MTHFR C677T polymorphism found in arterial thrombosis patient group suggests that this polymorphism might increase the risk of arterial thrombosis in Georgian patients.
The frequency of MTHFR 677TT genotype may be correlated with the morbility of deep venous thrombosis.
Our 2.5 A resolution crystal structure of human MTHFR reveals a unique architecture, appending the well-conserved catalytic TIM-barrel to a eukaryote-only SAM-binding domain. The latter domain of novel fold provides the predominant interface for MTHFR homo-dimerization, positioning the N-terminal serine-rich phosphorylation region near the C-terminal SAM-binding domain.
The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.
, 5,10-methylenetetrahydrofolate reductase (NADPH)
, methylenetetrahydrofolate reductase (NAD(P)H)
, methylenetetrahydrofolate reductase-like
, methylenetetrahydrofolate reductase